MESD mesoderm development LRP chaperone [Homo sapiens (human)] - Gene

Summary

Official Symbol: MESDprovided by HGNC
Official Full Name: mesoderm development LRP chaperoneprovided by HGNC
Primary source: HGNC:HGNC:13520
See related: Ensembl:ENSG00000117899 MIM:607783; AllianceGenome:HGNC:13520
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOCA; OI20; MESDC2
Summary: Predicted to enable low-density lipoprotein particle receptor binding activity. Involved in ossification and protein folding. Located in endoplasmic reticulum. Implicated in osteogenesis imperfecta type 20. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (80946289..80989819, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (78809933..78853463, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (81238630..81282160, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
Title: Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.
Osteogenesis imperfecta-associated MESD mutations produce hypomorphic alleles whose failure to remain within the endoplasmic reticulum significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking
Title: Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Mesd C-terminal region constitutes the major LRP5/6-binding domain, and that Mesd protein and its C-terminal region peptide have a potential therapeutic value in cancer
Title: The C-terminal region Mesd peptide mimics full-length Mesd and acts as an inhibitor of Wnt/β-catenin signaling in cancer cells.
Results indicate that Mesd is a universal inhibitor of Wnt/LRP signaling on the cell surface.
Title: Mesd is a general inhibitor of different Wnt ligands in Wnt/LRP signaling and inhibits PC-3 tumor growth in vivo.
Results provide evidence that MESD functions as a general LRP chaperone and suggest that the Mesd phenotype results from both signaling and endocytic defects resulting from misfolding of multiple LRP receptors.
Title: MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm.
Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/LRP6.
Title: Two structural and functional domains of MESD required for proper folding and trafficking of LRP5/6.
a high bone mass mutant LRP5(G171V), has subtly reduced Dkk1 binding, and, in contrast to LRP5, no enhancement of binding with MesD
Title: A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).
as a result of (12;15)(q13;q25)translocation, the SUMO/Sentrin-specific protease 1 gene (SENP1) on chromosome 12 and the embryonic polarity-related mesoderm development gene (MESDC2) on chromosome 15 are disrupted and fused
Title: Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).
Mesd and LRP6 modulate Wnt signaling.
Title: Modulation of LRP6-mediated Wnt signaling by molecular chaperone Mesd.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta, type 20 MedGen: C5231439 OMIM: 618644 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with mesoderm development candidate 2 (MESDC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25309 (e-PCR)
- UniSTS:10369

RH17444 (e-PCR)
- UniSTS:48781

D15S894 (e-PCR)
- UniSTS:23714

WI-13829 (e-PCR)
- UniSTS:59633

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables low-density lipoprotein particle receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	NAS Non-traceable Author Statement more info	PubMed
involved_in ossification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to cell surface	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: LRP chaperone MESD

Names: LDLR chaperone MESD; mesoderm development LRP chaperone MESD; mesoderm development candidate 2; mesoderm development protein; renal carcinoma antigen NY-REN-61

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_015154.3 → NP_055969.1 LRP chaperone MESD precursor

See identical proteins and their annotated locations for NP_055969.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.

Source sequence(s)

BE004295, D42039, DA938708, DB365572

Consensus CDS

CCDS32308.1

UniProtKB/Swiss-Prot

B4DW84, D3DW96, Q14696, Q969U1

Related

ENSP00000261758.4, ENST00000261758.6

Conserved Domains (1) summary

pfam10185
Location:52 → 201

Mesd; Chaperone for wingless signalling and trafficking of LDL receptor

RNA

NR_126327.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC027808, BC009210
NR_126328.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two exons and contains two alternate 3' exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC027808, AK301416, BC009210, DA938708